Ghidoni, Roberta

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

Lui, H., Zhang, J., Makinson, S. R., Cahill, M. K., Kelley, K. W., Huang, H.-Y., Shang, Y., Oldham, M. C., Martens, L. H., Gao, F., et al. (2016) · Cell

Neuroinflammation and Neurodegeneration MechanismsAmyotrophic Lateral Sclerosis Research

Cited by 729

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with subtype and Stage inference

Young, A. L., Marinescu, R. V., Oxtoby, N. P., Bocchetta, M., Yong, K., Firth, N. C., Cash, D. M., Thomas, D. L., Dick, K. M., Cardoso, J., et al. (2018) · Nature Communications

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 596

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis

Rohrer, J. D., Nicholas, J. M., Cash, D. M., van Swieten, J., Dopper, E., Jiskoot, L., van Minkelen, R., Rombouts, S. A., Cardoso, M. J., Clegg, S., et al. (2015) · The Lancet Neurology

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 538

Frontotemporal dementia and its subtypes: a genome-wide association study

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., et al. (2014) · The Lancet Neurology

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 383

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I. E., Pedersen, N. L., Stringa, N., Zettergren, A., Hernández, I., et al. (2021) · Nature Communications

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 324

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Moore, K. M., Nicholas, J., Grossman, M., McMillan, C. T., Irwin, D. J., Massimo, L., Van Deerlin, V. M., Warren, J. D., Fox, N. C., Rossor, M. N., et al. (2020) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 313

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

Meeter, L. H., Dopper, E. G., Jiskoot, L. C., Sanchez‐Valle, R., Graff, C., Benussi, L., Ghidoni, R., Pijnenburg, Y. A., Borroni, B., Galimberti, D., et al. (2016) · Annals of Clinical and Translational Neurology

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 263

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

Finch, N., Carrasquillo, M. M., Baker, M., Rutherford, N. J., Coppola, G., DeJesus-Hernandez, M., Crook, R., Hunter, T., Ghidoni, R., Benussi, L., et al. (2011) · Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 243

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

Cash, D. M., Bocchetta, M., Thomas, D. L., Dick, K. M., van Swieten, J. C., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. B., et al. (2018) · Neurobiology of Aging

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 200

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

van der Ende, E. L., Meeter, L. H., Poos, J. M., Panman, J. L., Jiskoot, L. C., Dopper, E. G. P., Papma, J. M., de Jong, F. J., Verberk, I. M. W., Teunissen, C., et al. (2019) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 181

JNK Plays a Key Role in Tau Hyperphosphorylation in Alzheimer's Disease Models

Ploia, C., Antoniou, X., Sclip, A., Grande, V., Cardinetti, D., Colombo, A., Canu, N., Benussi, L., Ghidoni, R., Forloni, G., et al. (2011) · Journal of Alzheimer's Disease

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 145

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Swarup, V., Hinz, F. I., Rexach, J. E., Noguchi, K.-I., Toyoshiba, H., Oda, A., Hirai, K., Sarkar, A., Seyfried, N. T., Cheng, C., et al. (2019) · Nature Medicine

Alzheimer's disease research and treatmentsBioinformatics and Genomic Networks

Cited by 136

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., et al. (2018) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 131

TDP-43 real-time quaking induced conversion reaction optimization and detection of seeding activity in CSF of amyotrophic lateral sclerosis and frontotemporal dementia patients

Scialò, C., Tran, T. H., Salzano, G., Novi, G., Caponnetto, C., Chiò, A., Calvo, A., Canosa, A., Moda, F., Caroppo, P., et al. (2020) · Brain Communications

Amyotrophic Lateral Sclerosis ResearchPrion Diseases and Protein Misfolding

Cited by 123

Serum Glial Fibrillary Acidic Protein (GFAP) Is a Marker of Disease Severity in Frontotemporal Lobar Degeneration

Benussi, A., Ashton, N. J., Karikari, T. K., Gazzina, S., Premi, E., Benussi, L., Ghidoni, R., Rodriguez, J. L., Emeršič, A., Binetti, G., et al. (2020) · Journal of Alzheimer’s Disease

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 113

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

Verheijen, J., Van den Bossche, T., van der Zee, J., Engelborghs, S., Sanchez-Valle, R., Lladó, A., Graff, C., Thonberg, H., Pastor, P., Ortega-Cubero, S., et al. (2016) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 112

Incidence of Syndromes Associated With Frontotemporal Lobar Degeneration in 9 European Countries

Logroscino, G., Piccininni, M., Graff, C., Hardiman, O., Ludolph, A. C., Moreno, F., Otto, M., Remes, A. M., Rowe, J. B., Seelaar, H., et al. (2023) · JAMA Neurology

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 91

Toward a glutamate hypothesis of frontotemporal dementia

Benussi, A., Alberici, A., Buratti, E., Ghidoni, R., Gardoni, F., Di Luca, M., Padovani, A., & Borroni, B. (2019) · Frontiers in Neuroscience

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 90

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

On behalf of the European Early-Onset Dementia (EU EOD) consortium, De Roeck, A., Van den Bossche, T., van der Zee, J., Verheijen, J., De Coster, W., Van Dongen, J., Dillen, L., Baradaran-Heravi, Y., Heeman, B., et al. (2017) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 74

Rac1 activation links tau hyperphosphorylation and Aβ dysmetabolism in Alzheimer’s disease

Borin, M., Saraceno, C., Catania, M., Lorenzetto, E., Pontelli, V., Paterlini, A., Fostinelli, S., Avesani, A., Di Fede, G., Zanusso, G., et al. (2018) · Acta Neuropathologica Communications

Alzheimer's disease research and treatmentsProtein Kinase Regulation and GTPase Signaling

Cited by 68

Novel CSF biomarkers in genetic frontotemporal dementia identified by proteomics

van der Ende, E. L., Meeter, L. H., Stingl, C., van Rooij, J. G. J., Stoop, M. P., Nijholt, D. A. T., Sanchez‐Valle, R., Graff, C., Öijerstedt, L., Grossman, M., et al. (2019) · Annals of Clinical and Translational Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 65

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

Meeter, L. H. H., Gendron, T. F., Sias, A. C., Jiskoot, L. C., Russo, S. P., Donker Kaat, L., Papma, J. M., Panman, J. L., van der Ende, E. L., Dopper, E. G., et al. (2018) · Annals of Clinical and Translational Neurology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 61

Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration

Tavares, T. P., Mitchell, D. G. V., Coleman, K. K., Coleman, B. L., Shoesmith, C. L., Butler, C. R., Santana, I., Danek, A., Gerhard, A., de Mendonca, A., et al. (2020) · Journal of Neurology, Neurosurgery & Psychiatry

Dementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Cited by 39